Stim1^tm3Ics
Targeted Allele Detail

Summary

• Symbol: Stim1^tm3Ics
• Name: stromal interaction molecule 1; targeted mutation 3, Mouse Clinical Institute
• MGI ID: MGI:7622053
• Synonyms: Stim1^R304W
• Gene: Stim1 Location: Chr7:101917013-102086526 bp, + strand Genetic Position: Chr7, 54.71 cM
• Alliance: Stim1^tm3Ics page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:277842
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6N

Mutation description

• Allele Type: Targeted (Not Applicable)
• Mutation: Single point mutation
• Mutation details: Arginine codon 304 (AGG) in exon 7 was changed to tryptophan (TGG) (c.910A>T:p.R304W). A loxP site, an FRT site flanked protamine-cre cassette, a neomycin resistance gene cassette and a second loxP site were inserted in opposite transcriptional orientation into intron 7. The floxed cre plus neo cassette pair was self-excised in male germline through the protamine promotor-driven expression of Cre. The mutation is the equivalent of the same human mutation associated with tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK). (J:277842)

Disease models

Expression

In Structures Affected by this Mutation:

12 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Stim1 Mutation: 46 strains or lines available

References

• Original: J:277842 Silva-Rojas R, et al., STIM1 over-activation generates a multi-systemic phenotype affecting the skeletal muscle, spleen, eye, skin, bones and immune system in mice. Hum Mol Genet. 2019 May 15;28(10):1579-1593
• All: 2 reference(s)